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Detection of a novel panel of 24 genes with high frequencies of mutation in gastric cancer based on next-generation sequencing

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World Journal of Clinical Cases 2022年第15期10卷 4761-4775页

作者： Hui-Hui Zeng Ze Yang Ye-Bei Qiu Shoaib Bashir Yin Li Meng Xu Department of Oncology The First Affiliated Hospital of Jinan UniversityGuangzhou 510630Guangdong ProvinceChina Department of Medical Oncology The First Affiliated Hospital of Bengbu Medical CollegeBengbu 233004Anhui ProvinceChina Department of Oncology Jinan UniversityGuangzhou 510630Guangdong ProvinceChina

BACKGROUND Gastric cancer is a leading cause of cancer-related mortality *** somatic mutations have been identified based on next-generation sequencing;they likely play a vital role in cancer treatment ***,nextgeneration sequencing has not been widely used to diagnose and treat gastric cancer in the *** To test the mutant gene frequency as a guide for molecular diagnosis and personalized therapy in gastric cancer by use of next-generation *** We constructed a panel of 24 mutant genes to detect somatic nucleotide variations and copy number variations based on a next-generation sequencing *** custom panel included high-mutation frequency cancer driver and tumour suppressor *** genes were also analyzed using the cBioPortal *** clinical annotation of important variant mutation sites was evaluated in the ClinVar *** searched for candidate drugs for targeted therapy and immunotherapy from the OncoKB *** In our study,the top 16 frequently mutated genes were TP53(58%),ERBB2(28%),BRCA2(23%),NF1(19%),PIK3CA(14%),ATR(14%),MSH2(12%),FBXW7(12%),BMPR1A(12%),ERBB3(11%),ATM(9%),FGFR2(8%),MET(8%),PTEN(6%),CHD4(6%),and KRAS(5%).TP53 is a commonly mutated gene in gastric cancer and has a similar frequency to that in the cBioPortal database.33 gastric cancer patients(51.6%)with microsatellite stability and eight patients(12.5%)with microsatellite instability-high were *** analyses demonstrated that high-frequency mutated genes had transmembrane receptor protein kinase *** discovered that BRCA2,PIK3CA,and FGFR2 gene mutations represent promising biomarkers in gastric *** We developed a powerful panel of 24 genes with high frequencies of mutation that could detect common somatic *** observed mutations provide potential targets for the clinical treatment of gastric cancer.

关键词： Gastric cancer Next-generation sequencing mutated genes Target sites Microsatellite instability

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